Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
0.100 GeneticVariation phenotype CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017
Entrez Id: 25915
Gene Symbol: NDUFAF3
NDUFAF3
0.100 Biomarker phenotype HPO
Entrez Id: 5393
Gene Symbol: EXOSC9
EXOSC9
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 4720
Gene Symbol: NDUFS2
NDUFS2
0.100 Biomarker phenotype HPO
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
0.100 Biomarker phenotype HPO
Entrez Id: 4714
Gene Symbol: NDUFB8
NDUFB8
0.100 Biomarker phenotype HPO
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
0.100 Biomarker phenotype HPO